Allele Registry

Canonical Allele Identifier: PA645448952

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000424648

RCV003766333

ClinVar Variation:

387380

HGVS (amino-acid)	Matching Registered Transcripts
NP_000239.1:p.Glu213Gln	CA16605010 NM_000248.4:c.637G>C